Individual and family characteristics associated with BRCA1/2 genetic testing in high‐risk families

Background Little is known about family members' interrelated decisions to seek genetic testing for breast cancer susceptibility. Methods The specific aims of this cross‐sectional, descriptive, cohort study were (i) to examine whether individual and family characteristics have a direct effect on women's decisions to use genetic testing for hereditary susceptibility to breast cancer and (ii) to explore whether family characteristics moderate the relationships between individual characteristics and the decision to use genetic testing. Participants were women (>18 years old) who (i) received genetic testing for hereditary breast cancer and who agreed to invite one of their female relatives into the study and (ii) female relatives who had NOT obtained genetic testing and were identified by pedigree analysis as having >10% chances of hereditary susceptibility to breast cancer. Results The final sample consisted of 168 English‐speaking, family dyads who completed self‐administered, mailed surveys with validated instruments. Multivariate conditional logistic regression analyses showed that the proposed model explained 62% of the variance in genetic testing. The factors most significantly associated with genetic testing were having a personal history of cancer; perceiving genetic testing to have more benefits than barriers; having greater family hardiness; and perceiving fewer negative consequences associated with a breast cancer diagnosis. No significant interaction effects were observed. Conclusions Findings suggest that both individual and family characteristics are associated with the decision to obtain genetic testing for hereditary breast cancer; hence, there is a need for interventions that foster a supportive family environment for patients and their high‐risk relatives. Copyright © 2012 John Wiley & Sons, Ltd.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/98211/1/pon3139.pd

Patient‐friendly pathology reports for patients with breast atypias

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/146318/1/tbj13061_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/146318/2/tbj13061.pd

The role of cognitive appraisal and worry in BRCA1/2 testing decisions among a clinic population

Abstract Previous studies examining decision making in the context of genetic testing for BRCA1/2 gene mutations have been limited in their reliance on cross-sectional designs, lack of theoretical guidance, and focus on measures of intention rather than actual behavior. Informed by the Health Belief Model and other theories of self-regulation, the present study set out to examine the role of cognitive appraisal and worry in BRCA1/2 testing decisions. A total of 205 women completed baseline questionnaires prior to their genetic counselling appointment. Medical charts were audited to determine testing decisions. Bivariate analyses indicated that perceived severity of being a carrier and perceived benefits and barriers to testing were significantly associated with testing decisions. Perceived benefits remained significant in multivariate analyses. Moreover, multivariate analyses revealed a significant three-way interaction between perceived susceptibility, perceived severity, and worry about being a mutation carrier and testing decisions. Among women high in baseline worry, those high in perceived susceptibility but low in perceived severity were significantly more likely to undergo genetic testing than all other susceptibility/severity combinations (80% vs. 36.2-42.9% range; Wald test ¼ 8.79, p < 0.01). These results support the need for researchers and practitioners to consider how interactions between cognition and worry may influence genetic testing decisions

Using a state cancer registry to recruit young breast cancer survivors and high-risk relatives: protocol of a randomized trial testing the efficacy of a targeted versus a tailored intervention to increase breast cancer screening

Abstract Background The Michigan Prevention Research Center, the University of Michigan Schools of Nursing, Public Health, and Medicine, and the Michigan Department of Community Health propose a multidisciplinary academic-clinical practice three-year project to increase breast cancer screening among young breast cancer survivors and their cancer-free female relatives at greatest risk for breast cancer. Methods/design The study has three specific aims: 1) Identify and survey 3,000 young breast cancer survivors (diagnosed at 20–45 years old) regarding their breast cancer screening utilization. 2) Identify and survey survivors’ high-risk relatives regarding their breast cancer screening utilization. 3) Test two versions (Targeted vs. Enhanced Tailored) of an intervention to increase breast cancer screening among survivors and relatives. Following approval by human subjects review boards, 3,000 young breast cancer survivors will be identified through the Michigan Cancer Registry and mailed an invitation letter and a baseline survey. The baseline survey will obtain information on the survivors’: a) current breast cancer screening status and use of genetic counseling; b) perceived barriers and facilitators to screening; c) family health history. Based on the family history information provided by survivors, we will identify up to two high-risk relatives per survivor. Young breast cancer survivors will be mailed consent forms and baseline surveys to distribute to their selected high-risk relatives. Relatives’ baseline survey will obtain information on their: a) current breast cancer screening status and use of genetic counseling; and b) perceived barriers and facilitators to screening. Young breast cancer survivors and high-risk relatives will be randomized as a family unit to receive two versions of an intervention aiming to increase breast cancer screening and use of cancer genetic services. A follow-up survey will be mailed 9 months after the intervention to survivors and high-risk relatives to evaluate the efficacy of each intervention version on: a) use of breast cancer screening and genetic counseling; b) perceived barriers and facilitators to screening; c) self-efficacy in utilizing cancer genetic and screening services; d) family support related to screening; e) knowledge of breast cancer genetics; and f) satisfaction with the intervention. Discussion The study will enhance efforts of the state of Michigan surrounding cancer prevention, control, and public health genomics. Trial registration NCT01612338http://deepblue.lib.umich.edu/bitstream/2027.42/112835/1/12885_2012_Article_3739.pd

Cancer-specific worry interference in women attending a breast and ovarian cancer risk evaluation program: impact on emotional distress and health functioning

Intrusive thoughts about cancer, often identified as ‘cancer-specific worries’ or ‘cancer-specific distress’, have been postulated to be associated with dysfunction in women at increased risk of developing breast or ovarian cancer. The current study discusses the development and validation of a measure designed to assess women's perceptions of the interference such worries create in their daily functioning. Analyses revealed that approximately two-thirds of a high-risk breast cancer clinic sample perceived worries about breast cancer as interfering with their functioning across a variety of life domains. Multiple regression analyses indicated that worry interference scores predicted Profile of Mood States (POMS) Anxiety and Confusion, and Short Form-36 (SF-36) Role-Emotional and Mental Health scores after the effects of other variables such as frequency of worry about breast cancer, and having a family history of cancer had been considered. Women who perceived their worries as interfering with their functioning reported higher levels of anxiety and confusion, and diminished mental health and role functioning. The results add to the expanding area of anxiety/distress in at-risk populations by providing (1) a direct measure of the perceived interference associated with breast cancer-specific thoughts, (2) a validation of the measure via its associations with standard measures of emotional distress and health functioning, and (3) evidence of the measure's incremental predictive value in explaining distress and quality of life, after consideration of background variables, such as having a family history of cancer. Copyright © 2001 John Wiley & Sons, Ltd.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/35160/1/510_ftp.pd

Using a state cancer registry to recruit young breast cancer survivors and high-risk relatives: protocol of a randomized trial testing the efficacy of a targeted versus a tailored intervention to increast breast cancer screening

BACKGROUND: The Michigan Prevention Research Center, the University of Michigan Schools of Nursing, Public Health, and Medicine, and the Michigan Department of Community Health propose a multidisciplinary academic-clinical practice three-year project to increase breast cancer screening among young breast cancer survivors and their cancer-free female relatives at greatest risk for breast cancer. METHODS/DESIGN: The study has three specific aims: 1) Identify and survey 3,000 young breast cancer survivors (diagnosed at 20-45 years old) regarding their breast cancer screening utilization. 2) Identify and survey survivors' high-risk relatives regarding their breast cancer screening utilization. 3) Test two versions (Targeted vs. Enhanced Tailored) of an intervention to increase breast cancer screening among survivors and relatives. Following approval by human subjects review boards, 3,000 young breast cancer survivors will be identified through the Michigan Cancer Registry and mailed an invitation letter and a baseline survey. The baseline survey will obtain information on the survivors': a) current breast cancer screening status and use of genetic counseling; b) perceived barriers and facilitators to screening; c) family health history. Based on the family history information provided by survivors, we will identify up to two high-risk relatives per survivor. Young breast cancer survivors will be mailed consent forms and baseline surveys to distribute to their selected high-risk relatives. Relatives' baseline survey will obtain information on their: a) current breast cancer screening status and use of genetic counseling; and b) perceived barriers and facilitators to screening. Young breast cancer survivors and high-risk relatives will be randomized as a family unit to receive two versions of an intervention aiming to increase breast cancer screening and use of cancer genetic services. A follow-up survey will be mailed 9 months after the intervention to survivors and high-risk relatives to evaluate the efficacy of each intervention version on: a) use of breast cancer screening and genetic counseling; b) perceived barriers and facilitators to screening; c) self-efficacy in utilizing cancer genetic and screening services; d) family support related to screening; e) knowledge of breast cancer genetics; and f) satisfaction with the intervention. DISCUSSION: The study will enhance efforts of the state of Michigan surrounding cancer prevention, control, and public health genomics

Genetic counseling for BRCA1/ 2: A randomized controlled trial of two strategies to facilitate the education and counseling process

Due to the complexity of information surrounding BRCA1/2 counseling and testing and its time consuming nature, efforts to facilitate the genetic counseling and education process are needed. Using a 2 Â 2 factorial design, two strategies were examined: a CD-ROM program for patients and a feedback checklist to the genetic counselor on patients' prior misconceptions. A total of 197 women attending a breast and ovarian cancer risk evaluation clinic for BRCA1/2 counseling were randomized into one of four conditions: standard care, CD-ROM only, feedback to counselor only, and both CD-ROM and feedback. Counseling outcomes included face-to-face time with the genetics team, knowledge acquisition, changes in worry about having a gene mutation, and genetic testing decisions. Overall, women who viewed the CD-ROM spent less time with the genetic counselor and were less likely to undergo genetic testing compared to women who did not view the CD-ROM. Feedback to the genetic counselor resulted in greater gains in knowledge of genetics and breast cancer. Among women less worried at baseline, those who viewed the CD-ROM showed no changes in worry following genetic counseling, in contrast to those who did not view the CD-ROM who increased in worry over time. This latter finding raises concerns about the impact of the increased worry on genetic testing decisions. No interaction effects of the two intervention arms were found. The study results support the importance of both strategies as valuable supplements to clinical BRCA1/2 counseling

Differences Between Women Who Pursued Genetic Testing for Hereditary Breast and Ovarian Cancer and Their At-Risk Relatives Who Did Not

Purpose/Objectives: To (a) examine differences in appraisals of hereditary breast and ovarian cancer (HBOC), psychological distress, family environment, and decisional conflict between women who pursued genetic testing and their at-risk relatives who did not, and (b) examine correlations among appraisals of HBOC, psychological distress, family environment, and decisional conflict regarding genetic testing in these two cohorts of women. Design: Descriptive, cross-sectional cohort study. Setting: Two clinics affiliated with a major research university in the midwestern United States. Sample: 372 women aged 18 years and older. 200 pursued genetic testing for BRCA1 and BRCA2 mutations (probands) and 172 of their female relatives who had a greater than 10% prior probability of being a mutation carrier but had not pursued testing. Methods: After providing informed consent, probands and relatives were mailed self-administered questionnaires. Main Research Variables: Perceived risk, knowledge of HBOC risk factors and modes of gene inheritance, perceived severity, perceived controllability, psychological distress, family relationships, family communication, and decisional conflict about genetic testing. Findings: T tests revealed that probands perceived higher risk and had more psychological distress associated with breast cancer. Probands had more knowledge regarding risk factors and gene inheritance, and greater decisional conflict regarding genetic testing. Relatives reported higher perceived severity and controllability. No differences were observed in family relationships and family communication between probands and relatives. Pearson correlations revealed different patterns in knowledge, perceived controllability, family relationships, and decisional conflict between probands and relatives. Conclusions: Significant differences exist between women who pursue genetic testing and those who do not. The family environment influences adjustment to HBOC and decisions about genetic testing. Implications for Nursing: Enhancing the family communication process about HBOC can provide informational and emotional support to high-risk women and promote decision making about genetic testing

Development of a Web-based Family Intervention for BRCA Carriers and Their Biological Relatives: Acceptability, Feasibility, and Usability Study

Carriers of breast cancer gene (BRCA) mutations are asked to communicate genetic test results to their biological relatives to increase awareness of cancer risk and promote use of genetic services. This process is highly variable from family to family. Interventions that support communication of genetic test results, coping, and offer decision support in families harboring a pathogenic variant may contribute to effective management of hereditary cancer.; The aim of this paper was to describe the development of the Family Gene Toolkit, a Web-based intervention targeting BRCA carriers and untested blood relatives, designed to enhance coping, family communication, and decision making.; We present findings from focus groups regarding intervention acceptability and participant satisfaction and from a pre-post pilot study with random allocation to a wait-listed control group regarding intervention feasibility and usability.; The Family Gene Toolkit was developed by a multidisciplinary team as a psycho-educational and skills-building intervention. It includes two live webinar sessions and a follow-up phone call guided by a certified genetic counselor and a master's prepared oncology nurse. Each live webinar includes two modules (total four modules) presenting information about BRCA mutations, a decision aid for genetic testing, and two skill-building modules for effective coping and family communication. Participants in focus groups (n=11) were highly satisfied with the intervention, reporting it to be useful and describing clearly the important issues. From the 12 dyads recruited in the pre-post pilot study (response rate 12/52, 23%), completion rate was 71% (10/14) for intervention and 40% (4/10) for wait-listed control groups.; Acceptability and satisfaction with the Family Gene Toolkit is high. On the basis of the findings from usability and feasibility testing, modifications on timing, delivery mode, and recruitment methods have been implemented.; ClinicalTrials.gov NCT02154633; https://clinicaltrials.gov/ct2/show/NCT02154633 (Archived by WebCite at http://www.webcitation.org/6yYNvLPjv)